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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor.
Jarzabek K, Philibert P, Koda M, Sulkowski S, Kotula-Balak M, Bilinska B, Kottler ML, Wolczynski S, Sultan C. Jarzabek K, et al. Among authors: philibert p. Gynecol Endocrinol. 2007 Sep;23(9):499-504. doi: 10.1080/09513590701553852. Gynecol Endocrinol. 2007. PMID: 17852420 Free article.
129 results